Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Arnt2'

48108

Institutional Source

Beutler Lab

Gene Symbol

Arnt2

Ensembl Gene

ENSMUSG00000015709

Gene Name

aryl hydrocarbon receptor nuclear translocator 2

Synonyms

bHLHe1

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83895486-84059201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83954067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 261 (E261G)

Ref Sequence

ENSEMBL: ENSMUSP00000147129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208204] [ENSMUST00000208232] [ENSMUST00000209133]

AlphaFold

Q61324

Predicted Effect

probably benign
Transcript: ENSMUST00000085077
AA Change: E272G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: E272G

Domain	Start	End	E-Value	Type
HLH	69	122	1.42e-14	SMART
PAS	137	204	1.28e-8	SMART
low complexity region	225	236	N/A	INTRINSIC
PAS	325	391	4.15e-8	SMART
PAC	398	441	7.93e-5	SMART
low complexity region	502	526	N/A	INTRINSIC
low complexity region	597	626	N/A	INTRINSIC
low complexity region	653	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207759

Predicted Effect

unknown
Transcript: ENSMUST00000208129
AA Change: E65G

Predicted Effect

probably benign
Transcript: ENSMUST00000208204

Predicted Effect

probably benign
Transcript: ENSMUST00000208232
AA Change: E261G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000209133
AA Change: E261G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	probably damaging	Het

Other mutations in Arnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Arnt2	APN	7	83,935,037 (GRCm39)	missense	probably benign	0.01
IGL01525:Arnt2	APN	7	83,924,616 (GRCm39)	missense	possibly damaging	0.70
IGL02331:Arnt2	APN	7	83,914,832 (GRCm39)	missense	probably damaging	1.00
IGL02483:Arnt2	APN	7	83,900,605 (GRCm39)	missense	probably damaging	1.00
IGL02863:Arnt2	APN	7	83,917,145 (GRCm39)	missense	probably damaging	1.00
IGL03207:Arnt2	APN	7	83,993,042 (GRCm39)	missense	possibly damaging	0.93
Arnold2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
porker	UTSW	7	83,993,150 (GRCm39)	missense	probably damaging	1.00
R0024:Arnt2	UTSW	7	83,933,334 (GRCm39)	missense	probably benign	0.03
R0058:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0058:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0060:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0113:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0114:Arnt2	UTSW	7	83,996,738 (GRCm39)	missense	probably damaging	1.00
R0201:Arnt2	UTSW	7	84,010,867 (GRCm39)	nonsense	probably null
R0863:Arnt2	UTSW	7	83,914,792 (GRCm39)	missense	probably damaging	1.00
R1800:Arnt2	UTSW	7	83,924,583 (GRCm39)	missense	probably damaging	1.00
R1944:Arnt2	UTSW	7	83,992,959 (GRCm39)	missense	probably benign	0.01
R1964:Arnt2	UTSW	7	83,992,997 (GRCm39)	missense	possibly damaging	0.55
R2061:Arnt2	UTSW	7	83,993,078 (GRCm39)	missense	probably damaging	1.00
R2216:Arnt2	UTSW	7	83,924,559 (GRCm39)	missense	probably damaging	0.99
R3107:Arnt2	UTSW	7	83,911,652 (GRCm39)	missense	possibly damaging	0.95
R3410:Arnt2	UTSW	7	83,924,655 (GRCm39)	missense	probably damaging	1.00
R3739:Arnt2	UTSW	7	83,993,009 (GRCm39)	missense	probably null	1.00
R4258:Arnt2	UTSW	7	83,960,163 (GRCm39)	missense	probably damaging	0.98
R4486:Arnt2	UTSW	7	83,924,553 (GRCm39)	missense	probably benign	0.03
R4489:Arnt2	UTSW	7	83,924,553 (GRCm39)	missense	probably benign	0.03
R4668:Arnt2	UTSW	7	83,924,594 (GRCm39)	missense	probably damaging	1.00
R5685:Arnt2	UTSW	7	83,912,473 (GRCm39)	missense	probably benign	0.00
R5876:Arnt2	UTSW	7	83,996,720 (GRCm39)	missense	probably damaging	1.00
R5923:Arnt2	UTSW	7	83,911,741 (GRCm39)	missense	probably benign	0.32
R5926:Arnt2	UTSW	7	83,993,154 (GRCm39)	missense	probably damaging	0.99
R6122:Arnt2	UTSW	7	84,010,773 (GRCm39)	missense	probably damaging	1.00
R7021:Arnt2	UTSW	7	83,993,150 (GRCm39)	missense	probably damaging	1.00
R7895:Arnt2	UTSW	7	83,954,406 (GRCm39)	missense	probably benign
R7898:Arnt2	UTSW	7	83,918,155 (GRCm39)	splice site	probably null
R8386:Arnt2	UTSW	7	83,996,747 (GRCm39)	missense	probably damaging	1.00
R9038:Arnt2	UTSW	7	83,954,059 (GRCm39)	missense	probably benign
R9258:Arnt2	UTSW	7	84,010,798 (GRCm39)	missense	probably damaging	1.00
R9346:Arnt2	UTSW	7	83,931,321 (GRCm39)	missense	probably benign	0.04
R9452:Arnt2	UTSW	7	83,933,334 (GRCm39)	missense	probably benign	0.03
R9636:Arnt2	UTSW	7	83,993,042 (GRCm39)	missense	probably benign	0.44
R9780:Arnt2	UTSW	7	83,954,426 (GRCm39)	missense	probably benign	0.02
X0066:Arnt2	UTSW	7	83,934,992 (GRCm39)	missense	possibly damaging	0.93
Z1176:Arnt2	UTSW	7	83,912,404 (GRCm39)	missense	probably benign	0.41
Z1177:Arnt2	UTSW	7	83,912,415 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTCAGATAGCGGCGGTTTTCTCC -3'
(R):5'- GACCAACAGAGTACATGTCAGGGTG -3'

Sequencing Primer
(F):5'- CGGTTTTCTCCGGTATCAAAAATG -3'
(R):5'- TCAGGGTGGCAGTACCCAG -3'

Posted On

2013-06-12